Evidence map›Paper›PMID 34216980›Full record

ArticleStem cell research2021

Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.

Hajrah Sarkar, Cécile Méjécase, Philippa Harding, Jonathan Eintracht, Lyes Toualbi, Dulce Lima Cunha, Mariya Moosajee

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 41% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. DominantFrontiers in cell and developmental biology · 2025
    Article
  3. Article
  4. Review
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Hajrah SarkarUCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
Cécile MéjécaseUCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
Philippa HardingUCL Institute of Ophthalmology, London, UK.
Jonathan EintrachtUCL Institute of Ophthalmology, London, UK.
Lyes ToualbiUCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
Dulce Lima CunhaUCL Institute of Ophthalmology, London, UK.
Mariya MoosajeeUCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK; Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK. Electronic address: m.moosajee@ucl.ac.uk.
The Francis Crick Institute · GBUniversity College London · GBMoorfields Eye Hospital · GB

Funding

National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/R001766/1Wellcome Trust 205174/Z/16/Z
6 · The paper itself

Abstract

Induced pluripotent stem cell (iPSC) lines were generated from two patients with RDH12 variants. UCLi014-A is from a patient with heterozygous frameshift mutation c.759del p.(Phe254Leufs*24), associated with autosomal dominant retinitis pigmentosa. UCLi015-A is from a patient with homozygous missense mutation c.619A > G p.(Asn207Asp), associated with Leber congenital amaurosis. Fibroblasts were derived from skin biopsies and reprogrammed using integration free episomal reprogramming plasmids. The iPSC lines expressed pluripotency markers, exhibited differentiation potential in vitro and displayed normal karyotypes. These cell lines will act as a tool for disease modelling, enabling comparison of disease mechanisms, identification of therapeutic targets and drug screening.

Indexed as

Induced Pluripotent Stem CellsLeber Congenital AmaurosisRetinitis PigmentosaAlcohol OxidoreductasesCell LineHeterozygoteHumansMutationAlcohol OxidoreductasesRDH12 protein, human

Identifiers

PMID34216980
PMCPMC8363920
OpenAlexW3176655390

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.